American Academy of Pediatrics (AAP) and American College of Medical Genetics (ACMG) recently provided two recommendations about predictive genetic testing of children. The Clinical Sequencing Exploratory Research Consortium's Pediatrics Working Group compared these recommendations, focusing on operational and ethical issues specific to decision making for children. Content analysis of the statements addresses two issues: (1) how these recommendations characterize and analyze locus of decision making, as well as the risks and benefits of testing, and (2) whether the guidelines (...) conflict or come to different but compatible conclusions because they consider different testing scenarios. These statements differ in ethically significant ways. AAP/ACMG analyzes risks and benefits using best interests of the child and recommends that, absent ameliorative interventions available during childhood, clinicians should generally decline to order testing. Parents authorize focused tests. ACMG analyzes risks and benefits using the interests of the child and other family members and recommends that sequencing results be examined for additional variants that can lead to ameliorative interventions, regardless of age, which laboratories should report to clinicians who should contextualize the results. Parents must accept additional analysis. The ethical arguments in these statements appear to be in tension with each other. (shrink)

BackgroundClinical ethical practice (CEP) is required for healthcare workers (HCWs) to improve health-care delivery. However, there are gaps between accepted ethical standards and CEP in Ethiopia. There have been limited studies conducted on CEP in the country. Therefore, this study aimed to determine the magnitude and associated factors of CEP among healthcare workers in healthcare facilities in Ethiopia.MethodFrom February to April 2021, a mixed-method study was conducted in 24 health facilities, combining quantitative and qualitative methods. Quantitative (survey questionnaire) and qualitative (...) (semi-structured interviews) data were collected. For quantitative and qualitative data analysis, Stata version 14 and Atlas.ti version 7 were utilized. Multiple logistic regression and thematic analysis for quantative and qualitative respectively used.ResultsFrom a total of 432 study participants, 407 HCWs were involved in the quantitative analysis, 36 participants were involved in five focus group discussions (FGDs), and eleven key informant interviews (KIIs) were involved in the qualitative analysis. The score of good CEP was 32.68%. Similarly, the scores of good knowledge and attitude were 33.50% and 25.31%, respectively. In the multiple logistic regression models, satisfaction with the current profession, availability of functional CECs, compassionate leaders, previously thought clinical ethics in pre-service education and good attitude were significant factors associated with CEP. Among these significant factors, knowledge, compassionate leaders, poor infrastructure, a conducive environment and positive attitudes were also determinants of CEP according to qualitative findings.ConclusionsThe CEP in health care services in Ethiopia is low. Satisfaction with the current profession, functional CECs, positive attitude, compassionate leaders and previously thought clinical ethics were significant factors associated with CEP. The Ministry of Health (MoH) should integrate interventions by considering CECs, compassionate leadership, and positive attitudes and enhance the knowledge of health professionals. Additionally, digitalization, intersectoral collaboration and institutionalization are important for promoting CEP. (shrink)

This paper discusses the results of a survey of medical and paramedical opinion relating to various difficult ethical issues in clinical genetics. These include the confidentiality of the doctor-patient relationship, prenatal diagnosis and termination, and Huntington's chorea. It is suggested that this method provides a useful means of assessing what is ethically acceptable in contemporary society.

Medicine is incorporating genetic services into all avenues of health‐care, ranging from the rarest to the most common diseases. Cognitive theories of decision‐making still dominate professionals’ understanding of patient decision‐making about how to use genetic information and whether to have testing. I discovered a conceptual model of decision‐making while carrying out a phenomenological‐hermeneutic descriptive study of a convenience sample of 12 couples who were interviewed while deciding whether to undergo prenatal genetic testing.Thirty‐two interviews were conducted with 12 men and 12 (...) women separately. Interviews were transcribed verbatim and all data were analyzed using three levels of coding that were sorted into 30 categories and then abstracted into three emergent meta‐themes that described men's and women's attempts to make sense and find meaning in how to best use prenatal genetic technology. Their descriptions of how they thought about, communicated, and coped with their decision were so detailed it was possible to discern nine different types of thinking they engaged in while deciding to accept or decline testing.They believed that decision‐making is a process of working through your own personal style of thinking. This might include only one or any combination of the following types of thinking: analytical, ethical, moral, reflective, practical, hypothetical, judgmental, scary, and second sight, as described in detail by these 12 couples. (shrink)

This paper proposes a refocusing of consent for clinical genetic testing, moving away from an emphasis on autonomy and information provision, towards an emphasis on the virtues of healthcare professionals seeking consent, and the relationships they construct with their patients. We draw on focus groups with UK healthcare professionals working in the field of clinical genetics, as well as in-depth interviews with patients who have sought genetic testing in the UK’s National Health Service. We explore two aspects (...) of consent: first, how healthcare professionals consider the act of ‘consenting’ patients; and second how these professional accounts, along with the accounts of patients, deepen our understanding of the consent process. Our findings suggest that while healthcare professionals working in genetic medicine put much effort into ensuring patients’ understanding about their impending genetic test, they acknowledge, and we show, that patients can still leave genetic consultations relatively uninformed. Moreover, we show how placing emphasis on the informational aspect of genetic testing is not always reflective of, or valuable to, patients’ decision-making. Rather, decision-making is socially contextualised – also based on factors outside of information provision. A more collaborative on-going consent process, grounded in virtue ethics and values of honesty, openness and trustworthiness, is proposed. (shrink)

Clinical geneticists are increasingly confronted with ethical tensions between their responsibilities to individual patients and to other family members. This paper considers the ethical implications of a “familial” conception of the clinical genetics role. It argues that dogmatic adherence to either the familial or to the individualistic conception of clinical genetics has the potential to lead to significant harms and to fail to take important obligations seriously.Geneticists are likely to continue to be required to make (...) moral judgments in the resolution of such tensions and may find it useful to have access to ethics training and support. (shrink)

The popular view of non-directive genetic counseling limits the counselor's role to providing information to clients and assisting families in making decisions in a morally neutral fashion. This view of non-directive genetic counseling is shown to be incomplete. A fuller understanding of what it means to respect autonomy shows that merely respecting client choices does not exhaust the duty. Moreover, the genetic counselor/client relationship should also be governed by the counselor's commitment to the principle of beneficience. When non-directive counseling is (...) reexamined in light of both these principles, it becomes clear that there are cases in which counselors should attempt to persuade clients to reconsider their decisions. Such attempts are consistent with non-directive counseling because, while respecting the clients' decision-making authority, they insure that clients act with full knowledge of the moral consequences of their decisions. (shrink)

Many new genetic tests are used in clinical practice, and the number of available tests is growing. Two important health policy questions arise as these genetic tests become available. The first question, whether a new test should be made available, has been the focus of much recent discussion. The second question concerns defining the appropriate standards surrounding the use of these tests, including patient selection, education, informed consent, test interpretation and counseling.Genetic tests currently move from the research arena, where (...) strategies are put in place to minimize risks,into the clinical context where the practice of medicine is more variable and the risks to patients less understood. In the research setting, risks can be minimized through safeguards including education, consent, and counseling. The frequency and magnitude of psychosocial and clinical risks canbe assessed. In the clinical setting, however, these safeguards may not be used consistently, creating unknown risksfor patients. (shrink)

Many new genetic tests are used in clinical practice, and the number of available tests is growing. Two important health policy questions arise as these genetic tests become available. The first question, whether a new test should be made available, has been the focus of much recent discussion. The second question concerns defining the appropriate standards surrounding the use of these tests, including patient selection, education, informed consent, test interpretation and counseling.Genetic tests currently move from the research arena, where (...) strategies are put in place to minimize risks,into the clinical context where the practice of medicine is more variable and the risks to patients less understood. In the research setting, risks can be minimized through safeguards including education, consent, and counseling. The frequency and magnitude of psychosocial and clinical risks canbe assessed. In the clinical setting, however, these safeguards may not be used consistently, creating unknown risksfor patients. (shrink)

The Direction of Medical Ethics The direction bioethics, and specifically medical ethics, will take in the next few years will be crucial. It is an emerging specialty that has attempted a great deal, that has many differing agendas, and that has its own identity crisis. Is it a subspecialty of clinical medicine? Is it a medical reform movement? Is it a consumer pro tection movement? Is it a branch of professional ethics? Is it a ra tionale for legal decisions (...) and agency regulations? Is it something physicians and ethical theorists do constructively together? Or is it a morally concentrated attack on high technology, with the prac titioners of scientific medicine and the medical ethicists in an adversarial role? Is it a conservative endeavor, exhibiting a Frankenstein syn drome in Medical Genetics ("this time, they have gone too far"), or a Clockwork Orange syndrome in Psychotherapy ("we have met hods to make you talk-walk-cry-kill")? Or does it suffer the afflic tion of overdependency on the informal fallacy of the Slippery Slope ("one step down this hill and we will never be able to stop") that remains an informal fallacy no matter how frequently it's used? Is it a restricted endeavor of analytic philosophy: what is the meaning of "disease," how is "justice" used in the allocation of medical resources, what constitutes "informed" or "consent?" Is it applied ethics, leading in clinical practice to some recommenda tion for therapeutic or preventive action? This incomplete list of questions indicates just how complex. (shrink)

Attention-deficit/hyperactivity disorder is a neurodevelopmental disorder with a childhood prevalence of 5%. In about two-thirds of the cases, ADHD symptoms persist into adulthood and often cause significant functional impairment. Based on the results of family and twin studies, the estimated heritability of ADHD approximates 80%, suggests a significant genetic component in the etiological background of the disorder; however, the potential genetic effects on disease risk, symptom severity, and persistence are unclear. This article provides a brief review of the genome-wide and (...) candidate gene association studies with a focus on the clinical aspects, summarizing findings of ADHD disease risk, ADHD core symptoms as dimensional traits, and other traits frequently associated with ADHD, which may contribute to the susceptibility to other comorbid psychiatric disorders. Furthermore, neuropsychological impairment and measures from neuroimaging and electrophysiological paradigms, emerging as potential biomarkers, also provide a prominent target for molecular genetic studies, since they lie in the pathway from genes to behavior; therefore, they can contribute to the understanding of the underlying neurobiological mechanisms and the interindividual heterogeneity of clinical symptoms. Beyond the aforementioned aspects, throughout the review, we also give a brief summary of the genetic results, including polygenic risk scores that can potentially predict individual response to different treatment options and may offer a possibility for personalized treatment for the therapy of ADHD in the future. (shrink)

Health care is transitioning from genetics to genomics, in which single-gene testing for diagnosis is being replaced by multi-gene panels, genome-wide sequencing, and other multi-genic tests for disease diagnosis, prediction, prognosis, and treatment. This health care transition is spurring a new set of increased or novel liability risks for health care providers and test laboratories. This article describes this transition in both medical care and liability, and addresses 11 areas of potential increased or novel liability risk, offering recommendations to (...) both health care and legal actors to address and manage those liability risks. (shrink)

Objectives: To study the consent process experienced by participants who are enrolled in a molecular genetic research study that aims to find new genetic mutations responsible for an apparently inherited disorder.Design: Semi-structured interviews and analysis/description of main themes.Participants: 78 members of 52 families who had been recruited to a molecular genetic study.Results: People were well informed about the goals, risks and benefits of the genetic research study but could not remember the consent process. They had mostly been recruited to take (...) part by trusted clinicians or their relatives but had little memory of, or concern about signing consent forms. Families appeared to regard the research as a continuation of their, or their relatives’, clinical care.Conclusions: Ethical review should be more flexible in its attitude to consent forms and written information sheets for some sorts of research. For rare genetic disease studies where research has been discussed fully within the clinical setting then the consent obtained at that time could suffice rather than needing extra consent at a later stage. However, clinician-researchers will need to ensure that their duty of care extends for the duration of the research and beyond. (shrink)

The concept of selecting for a disability, and deafness in particular, has triggered a controversial and sometimes acrimonious debate between key stakeholders. Previous studies have concentrated on the views of the deaf and hard of hearing, health professionals and ethicists towards reproductive selection for deafness. This study, however, is the first of its kind examining the views of hearing children of deaf adults towards preimplantation genetic diagnosis and prenatal diagnosis to select for or against deafness. Hearing children of deaf adults (...) straddle both the deaf and hearing worlds, and this dual perspective makes them ideally placed to add to the academic discourse concerning the use of genetic selection for or against deafness. The study incorporated two complementary stages, using initial, semistructured interviews with key informants as a means to guide the subsequent development of an electronic survey, completed anonymously by 66 individuals. The participants shared many of the same views as deaf individuals in the D/deaf community. The similarities extended to their opinions regarding deafness not being a disability, their ambivalence towards having hearing or deaf children and their general disapproval of the use of genetic technologies to select either for or against deafness. (shrink)

Genetic testing for cancer susceptibility is an application of biotechnology that has the potential both to improve the psychosocial and physical wellbeing of the population and to cause significant psychosocia1 and physical harms. In spite of the uncertain value of genetic testing, it has captured the interest of biotechnology companies, researchers, health care providers, and the public. As more tests become feasible, pressure may increase to make the tests available and reimbursable. Both the benefits and harms of these tests lie (...) not as much in the tests themselves, as in their power to predict or alter the future. The value of the tests does not derive from the information per se, but from the ability to communicate effectively the information to patients and providers, and the behavioral responses of patients, providers, and others to this information. (shrink)

Genetic testing for cancer susceptibility is an application of biotechnology that has the potential both to improve the psychosocial and physical wellbeing of the population and to cause significant psychosocia1 and physical harms. In spite of the uncertain value of genetic testing, it has captured the interest of biotechnology companies, researchers, health care providers, and the public. As more tests become feasible, pressure may increase to make the tests available and reimbursable. Both the benefits and harms of these tests lie (...) not as much in the tests themselves, as in their power to predict or alter the future. The value of the tests does not derive from the information per se, but from the ability to communicate effectively the information to patients and providers, and the behavioral responses of patients, providers, and others to this information. (shrink)

The interface between genetic research results and clinical practice occurs when patients present them- selves to physicians. When patients ask their doctors about the potential impact of a family disease on themselves, their children, and their grandchildren, physicians have an opportunity to be helpful. Unfortunately, the scientific discoveries are occurring faster than most physicians can read about them in their speciality journals and hence adjust their practice. Meanwhile, the press and media are proclaiming the latest scientific breakthroughs, creating a (...) preventive and curative expectation that physicians cannot fulfill.In this time of health system reorganization and consolidation, many people do not know who their primary caregiver is, no less which insurer is likely to cover which visit or genetic test. (shrink)

The interface between genetic research results and clinical practice occurs when patients present them- selves to physicians. When patients ask their doctors about the potential impact of a family disease on themselves, their children, and their grandchildren, physicians have an opportunity to be helpful. Unfortunately, the scientific discoveries are occurring faster than most physicians can read about them in their speciality journals and hence adjust their practice. Meanwhile, the press and media are proclaiming the latest scientific breakthroughs, creating a (...) preventive and curative expectation that physicians cannot fulfill.In this time of health system reorganization and consolidation, many people do not know who their primary caregiver is, no less which insurer is likely to cover which visit or genetic test. (shrink)

The UK Genethics Club was established in November 2001 in order to provide a national forum of ethics support for the profession of clinical genetics in the UK. The forum brings together health professionals, medical ethicists and lawyers and support is provided through detailed discussion of cases and sharing of good practice. Clinical genetics professionals had previously voiced concerns about making extremely difficult ethical decisions, with profound implications, in something of a vacuum. Professionals saw a lack (...) of guidance in the area and lack of time for discussion of difficult cases as reasons for this. This paper describes the origins of the group and gives (anonymized) examples of some of the types of issues discussed. (shrink)

Large scale DNA-mutation screening in patients with hereditary retinal diseases greatly enhances our knowledge about retinal function and diseases. Scientists, clinicians, patients, and families involved with retinal disorders may directly benefit from these developments. However, certain aspects of this expanding knowledge, such as the correlation between genotype and phenotype, may be much more complicated than we expect at present.

Background: Genetic tests for schizophrenia may introduce risks and benefits. Among young adults at clinical high risk for psychosis, little is known about their concerns and how they assess potential risks. Methods: We conducted semistructured interviews with 15 young adults at clinical high risk for psychosis to ask about their concerns. Results: Participants expressed concerns about test reliability, data interpretation, stigma, psychological harm, family planning, and privacy. Participants’ responses showed some departure from the ethics literature insofar as participants (...) were primarily interested in reporting their results to people to whom they felt emotionally close, and expressed little consideration of biological closeness. Additionally, if tests showed an increased genetic risk for schizophrenia, four clinical high-risk persons felt obligated to tell an employer and another three would “maybe” tell an employer, even in the absence of clinical symptoms. Conclusions: These findings suggest opportunities for clinicians and genetic counselors to intervene with education and support. (shrink)

Reproductive genetic carrier screening is increasingly being offered more widely, including to people with no family history or otherwise elevated chance of having a baby with a genetic condition. There are valid reasons to reject a prevention-focused public health ethics approach to such screening programs. Rejecting the prevention paradigm in this context has led to an emphasis on more individually-focused values of freedom of choice and fostering reproductive autonomy in RCS. We argue, however, that population-wide RCS has sufficient features in (...) common with other public health screening programs that it becomes important also to attend to its public health implications. Not doing so constitutes a failure to address the social conditions that significantly affect people’s capacity to exercise their reproductive autonomy. We discuss how a public health ethics approach to RCS is broader in focus than prevention. We also show that additional values inherent to ethical public health—such as equity and solidarity—are essential to underpin and inform the aims and implementation of reproductive carrier screening programs. (shrink)

The article reconsiders the nature and location of science in the development of genetic classification. Drawing on field studies of medical genetics, we explore how patient categorization is accomplished in between the clinic and laboratory. We focus on dysmorphology, a specialism concerned with complex syndromes that impair physical development. We show that dys-morphology is about more than fitting patients into prefixed diagnostic categories and that diagnostic process is marked by moments of uncertainty, ambiguity, and deferral. We describe how different (...) forms of evidence are brought into play and how patterns of physical features are identified as genetic or not. We suggest that clinical categorical work helps articulate the genetic as an emergent domain of medical classification and that moments of ambiguity and deferral create an imperative space that helps legitimate the need for more technoscience, and consequently, more clinical judgment with which to fix the genetic future. (shrink)

Research ethicists have recently declared a new ethical imperative: that researchers should communicate the results of research to participants. For some analysts, the obligation is restricted to the communication of the general findings or conclusions of the study. However, other analysts extend the obligation to the disclosure of individual research results, especially where these results are perceived to have clinical relevance. Several scholars have advanced cogent critiques of the putative obligation to disclose individual research results. They question whether ethical (...) goals are served by disclosure or violated by non-disclosure, and whether the communication of research results respects ethically salient differences between research practices and clinical care. Empirical data on these questions are limited. Available evidence suggests, on the one hand, growing support for disclosure, and on the other, the potential for significant harm. (shrink)

The scientific discovery of a range of genetic mutations has meant that people with a strong family history of cancer can find out whether they are at risk of developing cancer well before they have any symptoms. Genetic testing has opened up the possibility for otherwise healthy mutation carriers to access prophylactic treatments in order to minimise their risk. These include surgery to remove at-risk body parts, treatment with cancer drugs, medical surveillance strategies, self-surveillance and change in lifestyle. Clinical (...) experience to date has shown considerable resistance to the uptake of medical preventative measures despite their promise of risk reduction. This paper provides a summary review of the available literature on the medical, psychological, counselling and social aspects of genetic testing and the use of risk-reducing treatments by people who have been diagnosed with a genetic predisposition to cancer. It acknowledges what has been learned from these approaches but points to the similarity of the philosophical underpinnings of most of the research. It concludes by tentatively making some suggestions, informed by the literature, about new directions for guiding our understanding the genetically at risk and the factors that influence their decision-making. (shrink)

Collaborative forms of work such as extended networks, expert groups, and consortia increasingly structure biomedical activities. They are particularly prominent in the cancer field, where procedures such as multicenter clinical trials have been instrumental in establishing the specialty of oncology, and subfields such as cancer genetics, where bioclinical activities—for example, testing for breast and ovarian cancer genes and follow-up interventions—are predicated on the articulation of a number of tasks performed by new clinical collectives. In this article, we (...) examine the founding and development of a French bioclinical collective—the Groupe Génétique et Cancer —that coordinates and structures the activities of most French actors in cancer genetics and operates simultaneously in the clinical, research, and regulatory domains. To examine the group’s structure and dynamics, the article combines information gathered through traditional fieldwork methods with information elicited from a coauthorship and semantic-network analysis of the publications of GGC members from 1969 to 2001. (shrink)

Recently, several genetic variants have been associated with increased or decreased risks of becoming infected and/or seriously ill with COVID-19—not only offering important potential medical benefits but also posing critical ethical questions. These genetic factors, some of which are associated with blood type, may account for variations in observed responses to COVID-19. Hence, assessments of these genetic differences and blood type could provide possible benefits in gauging patients’ risks of disease acquisition and prioritising allocation of interventions or vaccines, if supplies (...) are limited. The media has widely reported these findings, and people online are now discussing their blood type and its possible effects on their COVID-19 risks, but several ethical concerns arise. Individuals possessing genetic variants or blood types associated with lower risk may engage in ‘risk compensation’, erroneously assuming that they can protect themselves less, and hence less frequently wearing masks or washing hands. Given the ongoing COVID-19 pandemic, many physicians, hospitals, patients, policymakers, members of the public, testing companies and others may well consider these factors in making critical prevention/treatment decisions. Researchers, providers and others should thus begin to address these concerns. Increased awareness and education aimed at providers, patients, family members, public health officials, political leaders and the public-at-large are critical. Attitudinal research is vital to examine how providers, patients and the public understand these findings. Ethical frameworks and guidelines are needed, addressing whether such genetic information should be incorporated into decisions regarding allocation of scarce resources—including hospital and ICU beds, ventilators, medications and vaccines—and if so, how. (shrink)

Research and clinical trial development for rare diseases pose unique bioethical challenges. Much of the literature on rare diseases focuses on patient advocacy and drug development to manage or cu...

Progress in precision medicine is being achieved through the design of clinical trials that use genetic biomarkers to guide stratification of patients and assignation to treatment or control groups. Genetic analysis of biomarkers is, therefore, essential to complete their objectives, and this involves the study of biological samples from donor patients that have been recruited according to criteria previously established in the design of the clinical trial. Nevertheless, it is becoming very common that, in the solicitation of biological (...) samples, purposes that are beyond the objectives of the stated therapeutic trial research are introduced, like the development of ill-explained exploratory studies or the use in unspecified future research. In the digital era, the sequencing of patients’ DNA needs to be considered as a serious security matter, not only for the patients, but also for their relatives. Genetic information may be easily stored, even forever, in digital files. This engenders a permanent risk of being stolen or misused in many ways. Furthermore, re-identification of sample donors is technically feasible through their genetic data. For these reasons, genetic analysis of samples collected in clinical trials should be restricted to the accomplishment of their main objectives or well justified goals. (shrink)